Linked Data
dbSNP Id:
rs1156754031
gnomAD v3:
16-31189077-T-TTTA
gnomAD v4:
16-31189077-T-TTTA
MyVariant Identifiers:
chr16:g.31200398_31200399insTTA (hg19)
chr16:g.31189077_31189078insTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31189080_31189082dup , CM000678.2:g.31189080_31189082dup | GRCh38 |
| NC_000016.9:g.31200401_31200403dup , CM000678.1:g.31200401_31200403dup | GRCh37 |
| NC_000016.8:g.31107902_31107904dup | NCBI36 |
| NG_012889.2:g.13949_13951dup , LRG_655:g.13949_13951dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.833-43_833-41dup MANE Select | ENSP00000254108.8:n.833-43_833-41dup | |
| ENST00000254108.11:c.833-43_833-41dup | ENSP00000254108.7:n.833-43_833-41dup | |
| ENST00000380244.7:c.830-43_830-41dup | ENSP00000369594.3:n.830-43_830-41dup | |
| ENST00000474990.5:n.127-43_127-41dup | ||
| ENST00000487509.6:n.4008-43_4008-41dup | ||
| ENST00000564766.1:n.614_616dup | ||
| ENST00000566605.5:c.*6-43_*6-41dup | ENSP00000455073.1:n.*6-43_*6-41dup | |
| ENST00000568685.1:c.833-40_833-38dup | ENSP00000455282.1:n.833-40_833-38dup | |
| ENST00000568901.2:n.207-43_207-41dup | ||
| NM_001170634.1:c.830-43_830-41dup | NP_001164105.1:n.830-43_830-41dup | |
| NM_001170937.1:c.821-43_821-41dup | NP_001164408.1:n.821-43_821-41dup | |
| NM_004960.3:c.833-43_833-41dup , LRG_655t1:c.833-43_833-41dup | NP_004951.1:n.833-43_833-41dup | |
| NR_028388.2:n.903-43_903-41dup | ||
| XM_005255233.3:c.218-43_218-41dup | XP_005255290.1:n.218-43_218-41dup | |
| XM_011545781.1:c.827-43_827-41dup | XP_011544083.1:n.827-43_827-41dup | |
| XM_011545782.1:c.218-43_218-41dup | XP_011544084.1:n.218-43_218-41dup | |
| XM_005255233.5:c.218-43_218-41dup | XP_005255290.1:n.218-43_218-41dup | |
| XM_011545782.2:c.218-43_218-41dup | XP_011544084.1:n.218-43_218-41dup | |
| XM_024450221.1:c.824-43_824-41dup | XP_024305989.1:n.824-43_824-41dup | |
| NM_004960.4:c.833-43_833-41dup MANE Select | NP_004951.1:n.833-43_833-41dup |